Microcephalic primordial dwarfism, Montreal type
All Entries 2
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Kabuki syndrome
- 22q11.2 deletion syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Achondroplasia
- Hennekam syndrome
- Aicardi-Goutières syndrome
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Seckel syndrome
- Hypochondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Laron syndrome
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Achondroplasia
- Silver-Russell syndrome
Parent facilities 0
Genetic Advices 0
Care facilities 1
Zentrum für seltene Entwicklungsstörungen am kbo-Kinderzentrum München
Zentrum für Seltene Erkrankungen am Klinikum rechts der Isar der Technischen Universität München Klinikum rechts der Isar der Technischen Universität München
Heiglhofstr. 65
81377 München
089 710090
089 71009253
Website
Email
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Infantile spasms syndrome
- Rubinstein-Taybi syndrome
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- Kabuki syndrome
- 22q11.2 deletion syndrome
- ADNP syndrome
- GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
- KBG syndrome
- Achondroplasia
- Hennekam syndrome
- Aicardi-Goutières syndrome
Supportgroups 1
Bundesverband Kleinwüchsige Menschen und ihre Familien (BKMF) e.V.
Leinestraße 2
28199
Bremen
- Isolated growth hormone deficiency type III
- Spondyloepiphyseal dysplasia congenita
- Non-acquired isolated growth hormone deficiency
- Pseudoachondroplasia
- FGFR3-related chondrodysplasia
- Seckel syndrome
- Hypochondroplasia
- Thanatophoric dysplasia
- Diastrophic dysplasia
- Laron syndrome
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
- Achondroplasia
- Silver-Russell syndrome